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Approved research

Genetics of ankylosing spondylitis

Principal Investigator: Professor Matthew Brown
Approved Research ID: 21024
Approval date: April 1st 2017

Lay summary

1. To identify genes involved in ankylosing spondylitis 2. To test genetic risk prediction for ankylosing spondylitis 3. To test whether HLA-B27 influences the risk of ischaemic heart disease and mortality. The study aims to improve treatment and potentially prevention of AS both by identifying novel therapeutic targets, and developing methods to improve early diagnosis of the disease, which currently has a mean 10 year diagnostic delay. Ankylosing spondylitis cases will be identified from the registry. The accuracy of the diagnosis will be tested by investigating the prevalence of HLA-B27 in cases, which should be >80%. If that threshold is achieved then case genotypes will be compared with controls by standard GWAS approaches. Genetic risk scores developed using a 25000 case GWAS we are currently completing will be tested for their positive and negative predictive value in the UK Biobank cohort. Full cohort